β-珠蛋白基因CAP位点下游+43_+40(-AAAC)突变的临床特征分析  

Hematological analysis of+43_+40(⁃AAAC)mutation in the 5′UTR ofβ⁃globin gene

作　　者：王继成[1] 杜丽[1] 姚翠泽 秦丹卿[1] 郭浩[1] WANG Jicheng;DU Li;YAO Cuizhe;QIN Danqing;GUO Hao(Medical Genetics Center,Key Laboratory of Metabolic and Genetic Disease in Women and Children,Guang-dong Women and Children Hospital,Guangzhou,Guangdong,China,511442)

机构地区：[1]广东省妇幼保健院医学遗传中心/广东省妇幼代谢与遗传病重点实验室,广东广州511442

出　　处：《分子诊断与治疗杂志》2020年第12期1612-1615,共4页Journal of Molecular Diagnostics and Therapy

基　　金：广东省医学科学技术研究基金项目(B2019150)。

摘　　要：目的通过分析β-珠蛋白基因5′UTR+43_+40(-AAAC)突变的携带者以及复合其他地中海贫血突变患者的相关血液学特征来评估此突变的遗传效应。方法应用血红蛋白电泳和血常规检测对所有采集的外周血标本进行血液学指标分析,使用PCR-流式荧光杂交法和Sanger测序进行珠蛋白基因突变检测,对相关血液学参数进行统计分析。结果共发现39例β-珠蛋白基因5′UTR+43_+40(-AAAC)突变病例,其中有8例患β-地中海贫血,9例患α-地中海贫血,1例同时合并α和β-地中海贫血。统计分析结果表明,20例有此突变的杂合子无贫血症状,除一孕妇病例外,MCV、MCH等血液学参数都正常。当合并其他地中海贫血突变时,也未改变相关血液学参数的水平。结论 5′UTR+43_+40(-AAAC)突变可能是一种多态性,并不具有显著的生物学功能。Objective To estimate genetic effect of+43_+40(⁃AAAC)mutation in the 5′UTR ofβ⁃globin gene by analyzed the hematology characteristics of carriers of this mutation and patients combined with other thalassemia mutations.Methods Hemoglobin electrophoresis and blood routine test were per⁃formed to analyze the hematological indexes of all peripheral blood samples,PCR⁃Flow fluorescent hybridiza⁃tion and Sanger sequencing were used to detect globin gene mutations,and the important hematology parame⁃ters were statistically analyzed.Results 39 cases of+43_+40(⁃AAAC)in the 5′UTR ofβ⁃globin gene were found.Among them,8 cases suffered fromβ⁃thalassemia,9 cases suffered fromα⁃thalassemia,and 1 case had bothαandβ⁃thalassemia.The results of statistical analysis showed that 20 heterozygotes with this muta⁃tion had no symptoms of anemia.Except for a pregnant case,the hematological parameters such as MCV and MCH were normal.When other thalassemia mutations were combined,the level of related hematological pa⁃rameters was not changed.Conclusion The 5′UTR+43_+40(⁃AAAC)mutation may be a polymorphism and does not have significant biological functions.

关 键 词：5′UTR突变 Β-地中海贫血 临床特征 多态性 

分 类 号：R556.61[医药卫生—血液循环系统疾病] R440[医药卫生—内科学]